Article
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica - 1 Jan 2018
Bastida José M, Lozano María L, Benito Rocío, Janusz Kamila, Palma-Barqueros Verónica, Del Rey Mónica, Hernández-Sánchez Jesús M, Riesco Susana, Bermejo Nuria, González-García Hermenegildo, Rodriguez-Alén Agustín, Aguilar Carlos, Sevivas Teresa, López-Fernández María F, Marneth Anna E, van der Reijden Bert A, Morgan Neil V, Watson Steve P, Vicente Vicente, Hernández-Rivas Jesús M, Rivera José, González-Porras José R
Abstract excerpt
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed via Sanger sequencing of a limited number of candidate genes. High-throughput sequencing is revolutionizing the genetic...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Blood Platelet Disorders
- Blood Platelets
- Child
- Child, Preschool
- Female